A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14197424



Internal ID4199240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67162568..67166418hg38UCSC Ensembl
Innerchr11:67162568..67166418hg38UCSC Ensembl
Outerchr11:67162422..67166581hg38UCSC Ensembl
chr11:66930039..66933889hg19UCSC Ensembl
Innerchr11:66930039..66933889hg19UCSC Ensembl
Outerchr11:66929893..66934052hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg383851
hg193851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626709
Supporting Variants
SamplesHG04182
Known GenesKDM2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14197424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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